Scientific Publications

OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population

Professional(s) : Susana Noval, María Nieves-Moreno, Elena Vallespín

Center(s) : Hospital Universitario La Paz, Spain

Working group(s) : Pediatric Ophthalmology Rare Diseases (WG3)

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

Professional(s) : Elfride DE BAERE, Petra Liskova, Carel HOYNG, Ana Fakin, Sandra Valeina, Ingeborgh VAN DEN BORN

Center(s) : Ghent University Hospital, Ghent, Belgium ; Center of Clinical Ophthalmic Genetics, Department of Ophthalmology, General University Hospital in Prague, Czech Republic ; Radboud university medical center, Nijmegen, Netherlands ; Eye Hospital, University Medical Centre Ljubljana, Slovenia ; Children’s Clinical University Hospital, Riga, Latvia ; The Rotterdam Eye Hospital, Rotterdam, Netherlands

Altered Splicing of LAMP2 in a Multigenerational Family from Latvia Affected by Danon Disease

Professional(s) : Sandra Valeina

Center(s) : Children’s Clinical University Hospital, Riga, Latvia

Real-World Safety and Effectiveness of Voretigene Neparvovec: Results up to 2 Years from the Prospective, Registry-Based PERCEIVE Study

Professional(s) : Francesca Simonelli, Bart LEROY, Isabelle Audo

Center(s) : AOU Università degli Studi della Campania Luigi Vanvitelli, Napoli, Italy ; Ghent University Hospital, Ghent, Belgium ; RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France

Working group(s) : Retinal Rare Eye Diseases (WG1)

Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy

Professional(s) : Catherine Vignal-Clermont, Claudia Priglinger

Center(s) : RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France ; Fondation Adolphe de Rothschild, Paris, France ; Klinikum der Universität München, Germany

Working group(s) : Neuro-Ophthalmology Rare Diseases (WG2)

Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy

Professional(s) : Claudia Priglinger

Center(s) : Klinikum der Universität München, Germany

Working group(s) : Neuro-Ophthalmology Rare Diseases (WG2)

Deep Learning-Based Retinal Layer Segmentation in Optical Coherence Tomography Scans of Patients with Inherited Retinal Diseases

Professional(s) : Claudia Priglinger, Maximilian Gerhardt

Center(s) : Klinikum der Universität München, Germany

Working group(s) : Retinal Rare Eye Diseases (WG1)

Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial

Professional(s) : Pemp Berthold, Claudia Priglinger

Center(s) : Medical University of Vienna, Dept of Ophthalmology, Vienna, Austria ; Klinikum der Universität München, Germany

Working group(s) : Neuro-Ophthalmology Rare Diseases (WG2)

Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease

Professional(s) : Claudia Priglinger, Maximilian Gerhardt

Center(s) : Klinikum der Universität München, Germany

Working group(s) : Retinal Rare Eye Diseases (WG1)

A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts

Professional(s) : Benedetto Falsini

Center(s) : Fondazione Policlinico Universitario A. Gemelli - Roma, Italy